Genes
Oligo Pools
NGS
Variant Libraries
Synthetic Controls
Antibody Discovery
IVDR Solutions
Twist Bioscience HQ
681 Gateway Blvd
South San Francisco, CA 94080
Adult onset familiar dystonia-plus syndrome: A novel presentation of IRF2BPL-associated neurodegeneration
PRODUCTS USED
ABSTRACT
Pathogenic variants of the IRF2BPL gene have been mostly associated with early onset epileptic encephalopathy. Movement disorders such as dystonia and ataxia were also reported, with symptoms mainly developing between childhood and adolescence. Here we describe a family with several members affected by a late onset dystonic and ataxic progressive syndrome, caused by a novel heterozygous pathogenic variant in the IRF2BPL gene.
